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Items: 1 to 50 of 80

1.

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Løkken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kynčl M, Walter MC, Carlier RY.

J Neurol. 2019 Sep 25. doi: 10.1007/s00415-019-09539-y. [Epub ahead of print]

PMID:
31555977
2.

X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures.

Brisset M, Ben Yaou R, Carlier RY, Chanut A, Nicolas G, Romero NB, Wahbi K, Decrocq C, Leturcq F, Laforêt P, Malfatti E.

Neuromuscul Disord. 2019 Sep;29(9):678-683. doi: 10.1016/j.nmd.2019.06.009. Epub 2019 Jun 19.

PMID:
31474437
3.

Myoimaging in Congenital Myopathies.

Carlier RY, Quijano-Roy S.

Semin Pediatr Neurol. 2019 Apr;29:30-43. doi: 10.1016/j.spen.2019.03.019. Epub 2019 Mar 27.

PMID:
31060724
4.

Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.

Tobaly D, Laforêt P, Perry A, Habes D, Labrune P, Decostre V, Masingue M, Petit F, Barp A, Bello L, Carlier P, Carlier RY.

Muscle Nerve. 2019 Jul;60(1):72-79. doi: 10.1002/mus.26483. Epub 2019 Apr 24.

PMID:
30972778
5.

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.

Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A.

Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14.

PMID:
30868735
6.

ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).

Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J.

Acta Neuropathol. 2019 Mar;137(3):501-519. doi: 10.1007/s00401-019-01963-8. Epub 2019 Jan 30.

PMID:
30701273
7.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J.

J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8.

PMID:
30530568
8.

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.

GóMez-Andrés D, Díaz-Manera J, Alejaldre A, Pulido-Valdeolivas I, GonzáLez-Mera L, Olivé M, Vilchez JJ, De Munain AL, Paradas C, Muelas N, SáNchez-MontáÑez Á, Alonso-Jimenez A, De la Banda MGG, Dabaj I, Bonne G, Munell F, Carlier RY, Quijano-Roy S.

Muscle Nerve. 2018 Dec;58(6):812-817. doi: 10.1002/mus.26312. Epub 2018 Nov 18.

PMID:
30066418
9.

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

Tordjman M, Dabaj I, Laforet P, Felter A, Ferreiro A, Biyoukar M, Law-Ye B, Zanoteli E, Castiglioni C, Rendu J, Beroud C, Chamouni A, Richard P, Mompoint D, Quijano-Roy S, Carlier RY.

Eur Radiol. 2018 Dec;28(12):5293-5303. doi: 10.1007/s00330-018-5472-5. Epub 2018 May 25.

PMID:
29802573
10.

The first French case of MATR3-related distal myopathy: Clinical, radiological and histopathological characterization.

Barp A, Malfatti E, Metay C, Jobic V, Carlier RY, Laforet P.

Rev Neurol (Paris). 2018 Dec;174(10):752-755. doi: 10.1016/j.neurol.2017.08.004. Epub 2018 Apr 5. No abstract available.

PMID:
29628183
11.

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.

Dabaj I, Carlier RY, Gómez-Andrés D, Neto OA, Bertini E, D'amico A, Fattori F, PéRéon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimarães JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze JF, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano-Roy S, Moreno CAM, Zanoteli E.

Muscle Nerve. 2018 Aug;58(2):224-234. doi: 10.1002/mus.26137. Epub 2018 May 14.

PMID:
29624713
12.

WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.

Masingue M, Perrot J, Carlier RY, Piguet-Lacroix G, Latour P, Stojkovic T.

Neurogenetics. 2018 May;19(2):67-76. doi: 10.1007/s10048-018-0539-7. Epub 2018 Feb 2.

PMID:
29396836
13.

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, Labrune P, Duno M, Krag T, Cerino M, Bartoli M, Bonne G, Vissing J, Laforet P, Petit FM.

Neurol Genet. 2017 Dec 18;3(6):e208. doi: 10.1212/NXG.0000000000000208. eCollection 2017 Dec.

14.

MRI in sarcoglycanopathies: a large international cohort study.

Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9.

PMID:
28889091
15.

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

Biancalana V, Scheidecker S, Miguet M, Laquerrière A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Küsters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B, Laporte J.

Acta Neuropathol. 2017 Dec;134(6):889-904. doi: 10.1007/s00401-017-1748-0. Epub 2017 Jul 6.

PMID:
28685322
16.

Considerations on the Relevance of Cerebral Fusiform Aneurysms Observed During HIV Infection.

Law-Ye B, Carlier RY, Richard R, Blanc R, Jourdan C, de Truchis P, Viry F, Dormont D, Leclercq D, Clarençon F.

Clin Neuroradiol. 2018 Sep;28(3):357-365. doi: 10.1007/s00062-017-0581-0. Epub 2017 Apr 4.

PMID:
28378026
17.

Giant cell tumor of the ischium: Imaging findings before and after neoadjuvant denosumab.

Tordjman M, Larousserie F, Mompoint D, Biau D, Lebreton C, Carlier RY.

Diagn Interv Imaging. 2017 May;98(5):447-450. doi: 10.1016/j.diii.2017.01.013. Epub 2017 Apr 1. No abstract available.

18.

VEGF inhibition as possible therapy in spondyloarthritis patients: Targeting bone remodelling.

Lacout A, Carlier RY, El Hajjam M, Marcy PY.

Med Hypotheses. 2017 Apr;101:52-54. doi: 10.1016/j.mehy.2017.02.009. Epub 2017 Feb 27.

PMID:
28351491
19.

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

Lornage X, Malfatti E, Chéraud C, Schneider R, Biancalana V, Cuisset JM, Garibaldi M, Eymard B, Fardeau M, Boland A, Deleuze JF, Thompson J, Carlier RY, Böhm J, Romero NB, Laporte J.

Ann Neurol. 2017 Mar;81(3):467-473. doi: 10.1002/ana.24900. Epub 2017 Mar 20.

PMID:
28220527
20.

Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.

Papadopoulos C, LaforÊt P, Nectoux J, Stojkovic T, Wahbi K, Carlier RY, Carlier PG, Leonard-Louis S, Leturcq F, Romero N, Eymard B, Behin A.

Muscle Nerve. 2017 Dec;56(6):1096-1100. doi: 10.1002/mus.25608. Epub 2017 Apr 10.

PMID:
28187523
21.

Spinal cord ischemia in Scheuermann disease: A report of three cases.

Chiche L, Carlier RY, Siahou D, Nataf A, Hugeron C, Palazzo C.

Joint Bone Spine. 2017 May;84(3):345-348. doi: 10.1016/j.jbspin.2016.10.007. Epub 2017 Jan 25.

PMID:
28131733
22.

Basilar Artery Changes in Fabry Disease.

Manara R, Carlier RY, Righetto S, Citton V, Locatelli G, Colas F, Ermani M, Germain DP, Burlina A.

AJNR Am J Neuroradiol. 2017 Mar;38(3):531-536. doi: 10.3174/ajnr.A5069. Epub 2017 Jan 26.

23.

Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation.

Noury JB, Böhm J, Peche GA, Guyant-Marechal L, Bedat-Millet AL, Chiche L, Carlier RY, Malfatti E, Romero NB, Stojkovic T.

Neuromuscul Disord. 2017 Jan;27(1):78-82. doi: 10.1016/j.nmd.2016.10.006. Epub 2016 Oct 14.

PMID:
27876257
24.

Pre-surgical CT-assessment of neurogenic myositis ossificans of the hip and risk factors of recurrence: a series of 101 consecutive patients.

Law-Ye B, Hangard C, Felter A, Safa D, Denormandie P, Genet F, Carlier RY.

BMC Musculoskelet Disord. 2016 Oct 18;17(1):433.

25.

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.

Malfatti E, Barnerias C, Hedberg-Oldfors C, Gitiaux C, Benezit A, Oldfors A, Carlier RY, Quijano-Roy S, Romero NB.

Neuromuscul Disord. 2016 Oct;26(10):681-687. doi: 10.1016/j.nmd.2016.07.005. Epub 2016 Jul 25.

PMID:
27546458
26.

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.

van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL.

Mol Genet Metab. 2016 Sep;119(1-2):115-23. doi: 10.1016/j.ymgme.2016.05.013. Epub 2016 May 19.

27.

Qualitative and quantitative evaluation of skeletal muscle fatty degenerative changes using whole-body Dixon nuclear magnetic resonance imaging for an important reduction of the acquisition time.

Baudin PY, Marty B, Robert B, Shukelovitch A, Carlier RY, Azzabou N, Carlier PG.

Neuromuscul Disord. 2015 Oct;25(10):758-63. doi: 10.1016/j.nmd.2015.07.010. Epub 2015 Jul 22.

PMID:
26346495
28.

Myofibrillar myopathies: State of the art, present and future challenges.

Béhin A, Salort-Campana E, Wahbi K, Richard P, Carlier RY, Carlier P, Laforêt P, Stojkovic T, Maisonobe T, Verschueren A, Franques J, Attarian S, Maues de Paula A, Figarella-Branger D, Bécane HM, Nelson I, Duboc D, Bonne G, Vicart P, Udd B, Romero N, Pouget J, Eymard B.

Rev Neurol (Paris). 2015 Oct;171(10):715-29. doi: 10.1016/j.neurol.2015.06.002. Epub 2015 Sep 3. Review.

PMID:
26342832
29.

Successful endovascular treatment of three fusiform cerebral aneurysms with the Pipeline Embolization Device in a patient with dilating HIV vasculopathy.

Law-Ye B, Dormont D, Chiras J, Carlier RY, Clarençon F.

J Neurointerv Surg. 2017 Jul;9(e1):e7. doi: 10.1136/neurintsurg-2015-011730. Epub 2015 Apr 3. No abstract available.

PMID:
25841170
30.

Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.

Hankiewicz K, Carlier RY, Lazaro L, Linzoain J, Barnerias C, Gómez-Andrés D, Avila-Smirnow D, Ferreiro A, Estournet B, Guicheney P, Germain DP, Richard P, Bulacio S, Mompoint D, Quijano-Roy S.

Muscle Nerve. 2015 Nov;52(5):728-35. doi: 10.1002/mus.24634. Epub 2015 Sep 14.

PMID:
25808192
31.

Should patients with asymptomatic pompe disease be treated? A nationwide study in France.

Echaniz-Laguna A, Carlier RY, Laloui K, Carlier P, Salort-Campana E, Pouget J, Laforet P.

Muscle Nerve. 2015 Jun;51(6):884-9. doi: 10.1002/mus.24653. Epub 2015 Apr 2.

PMID:
25786784
32.

Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients.

Carlier PG, Azzabou N, de Sousa PL, Hicks A, Boisserie JM, Amadon A, Carlier RY, Wary C, Orlikowski D, Laforêt P.

J Inherit Metab Dis. 2015 May;38(3):565-72. doi: 10.1007/s10545-015-9825-9. Epub 2015 Mar 7.

33.

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

Deconinck N, Richard P, Allamand V, Behin A, Lafôret P, Ferreiro A, de Becdelievre A, Ledeuil C, Gartioux C, Nelson I, Carlier RY, Carlier P, Wahbi K, Romero N, Zabot MT, Bouhour F, Tiffreau V, Lacour A, Eymard B, Stojkovic T.

J Neurol Neurosurg Psychiatry. 2015 Dec;86(12):1337-46. doi: 10.1136/jnnp-2013-307245. Epub 2014 Dec 22.

PMID:
25535305
34.

Sciatic nerve compression by neurogenic heterotopic ossification: use of CT to determine surgical indications.

Salga M, Jourdan C, Durand MC, Hangard C, Denormandie P, Carlier RY, Genêt F.

Skeletal Radiol. 2015 Feb;44(2):233-40. doi: 10.1007/s00256-014-2003-6. Epub 2014 Sep 14.

PMID:
25218150
35.

Muscle magnetic resonance imaging: a new diagnostic tool with promising avenues in therapeutic trials.

Quijano-Roy S, Carlier RY.

Neuropediatrics. 2014 Oct;45(5):273-4. doi: 10.1055/s-0034-1389894. Epub 2014 Sep 3. No abstract available.

PMID:
25184740
36.

Whole-body muscle MRI to detect myopathies in non-extrapyramidal bent spine syndrome.

Ohana M, Durand MC, Marty C, Lazareth JP, Maisonobe T, Mompoint D, Carlier RY.

Skeletal Radiol. 2014 Aug;43(8):1113-22. doi: 10.1007/s00256-014-1909-3. Epub 2014 May 31.

PMID:
24878839
37.

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

Echaniz-Laguna A, Dubourg O, Carlier P, Carlier RY, Sabouraud P, Péréon Y, Chapon F, Thauvin-Robinet C, Laforêt P, Eymard B, Latour P, Stojkovic T.

Neurology. 2014 May 27;82(21):1919-26. doi: 10.1212/WNL.0000000000000450. Epub 2014 Apr 30.

PMID:
24789864
38.

Severe Charcot spinal arthropathy.

Dinh A, Descatha A, Carlier RY.

Spine J. 2013 Oct;13(10):1406-7. No abstract available.

PMID:
24383101
39.

Diaphragmatic dysfunction in Collagen VI myopathies.

Quijano-Roy S, Khirani S, Colella M, Ramirez A, Aloui S, Wehbi S, de Becdelievre A, Carlier RY, Allamand V, Richard P, Azzi V, Estournet B, Fauroux B.

Neuromuscul Disord. 2014 Feb;24(2):125-33. doi: 10.1016/j.nmd.2013.11.002. Epub 2013 Nov 16.

PMID:
24314752
40.

Current and future imaging of the peripheral nervous system.

Ohana M, Moser T, Moussaouï A, Kremer S, Carlier RY, Liverneaux P, Dietemann JL.

Diagn Interv Imaging. 2014 Jan;95(1):17-26. doi: 10.1016/j.diii.2013.05.008. Epub 2013 Oct 19. Review.

41.

Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study.

Laforêt P, Stojkovic T, Bassez G, Carlier PG, Clément K, Wahbi K, Petit FM, Eymard B, Carlier RY.

Mol Genet Metab. 2013 Feb;108(2):125-31. doi: 10.1016/j.ymgme.2012.12.004. Epub 2012 Dec 28.

PMID:
23333026
42.

Whole body muscle MRI protocol: pattern recognition in early onset NM disorders.

Quijano-Roy S, Avila-Smirnow D, Carlier RY; WB-MRI muscle study group.

Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S68-84. doi: 10.1016/j.nmd.2012.08.003.

PMID:
22980770
43.

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.

Jarraya M, Quijano-Roy S, Monnier N, Béhin A, Avila-Smirnov D, Romero NB, Allamand V, Richard P, Barois A, May A, Estournet B, Mercuri E, Carlier PG, Carlier RY.

Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S137-47. doi: 10.1016/j.nmd.2012.06.347.

PMID:
22980765
44.

Muscle MRI findings in limb girdle muscular dystrophy type 2L.

Sarkozy A, Deschauer M, Carlier RY, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Gläser D, Carlier PG, Bushby K, Lochmüller H, Straub V.

Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S122-9. doi: 10.1016/j.nmd.2012.05.012.

PMID:
22980763
45.

Myositis ossificans imaging: keys to successful diagnosis.

Lacout A, Jarraya M, Marcy PY, Thariat J, Carlier RY.

Indian J Radiol Imaging. 2012 Jan;22(1):35-9. doi: 10.4103/0971-3026.95402.

46.

Axonotmesis of the sciatic nerve.

Ohana M, Quijano-Roy S, Colas F, Lebreton C, Vallée C, Carlier RY.

Diagn Interv Imaging. 2012 May;93(5):398-400. doi: 10.1016/j.diii.2012.03.001. Epub 2012 Apr 26. No abstract available.

47.

Pneumatization of the skull base due to valsalva maneuver.

Lacout A, Marcy PY, Carlier RY, Thariat J.

Cleft Palate Craniofac J. 2013 Jan;50(1):113-6. doi: 10.1597/11-280. Epub 2012 Mar 15.

PMID:
22420630
48.

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, Bönnemann CG, Zschocke J, Fauth C.

Am J Hum Genet. 2012 Feb 10;90(2):201-16. doi: 10.1016/j.ajhg.2011.12.004. Epub 2012 Jan 19.

49.

Muscle imaging in congenital myopathies.

Quijano-Roy S, Carlier RY, Fischer D.

Semin Pediatr Neurol. 2011 Dec;18(4):221-9. doi: 10.1016/j.spen.2011.10.003. Review.

PMID:
22172417
50.

The pulvinar sign in Fabry patients: the first report in female patients.

Burlina AP, Politei J, Cinque S, Soliani A, Carlier RY, Germain DP, Manara R.

J Neurol. 2012 Jun;259(6):1227-8. doi: 10.1007/s00415-011-6305-5. Epub 2011 Nov 18. No abstract available.

PMID:
22095041

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